Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome (Q44093156)

29 November 2017

title

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome (English)

1 reference

29 November 2017

0 references

multiple abnormalities

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20797712

2 July 2024

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20797712

2 July 2024

4

Matthias W Beckmann

1 reference

29 November 2017

2

Cordula Schippert

1 reference

29 November 2017

3

Reiner Strick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20797712

2 July 2024

author name string

Susanne Ledig

1

1 reference

29 November 2017

Peter Wieacker

6

1 reference

29 November 2017

Patricia G. Oppelt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20797712

2 July 2024

language of work or name

English

0 references

publication date

24 August 2010

1 reference

full work available at URL

29 November 2017

http://www.fertstert.org/article/S0015028210021680/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20797712

https://api.elsevier.com/content/article/PII:S0015028210021680?httpAccept=text/xml

2 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

https://api.elsevier.com/content/article/PII:S0015028210021680?httpAccept=text/plain

2 July 2024

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

2 July 2024

published in

Fertility and Sterility

1 reference

29 November 2017

volume

95

1 reference

29 November 2017

issue

5

1 reference

29 November 2017

page(s)

1589-1594

1 reference

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

29 November 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Two cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with situs inversus totalis: coincidence or co-existence?

2 July 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report

2 July 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Meckel-Gruber syndrome associated with Rokitansky-Kuster-Hauser syndrome

2 July 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Genital abnormalities in females with Bardet-Biedl syndrome

2 July 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

2 July 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome

2 July 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

2 July 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report

2 July 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Female development in mammals is regulated by Wnt-4 signalling

2 July 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Genomic imbalances associated with mullerian aplasia

2 July 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

2 July 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

2 July 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

2 July 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

2 July 2024

16

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Requirement of Lim1 for female reproductive tract development

2 July 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

2 July 2024

18

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus

2 July 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Chromosome 22q11 deletion presenting as the Potter sequence

2 July 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

2 July 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

2 July 2024

23

1 reference

https://api.crossref.org/works/10.1016/J.FERTNSTERT.2010.07.1062

2 July 2024

Identifiers

1 reference

release_jjji2wtyjnhshcygbg43t6hae4

29 November 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jjji2wtyjnhshcygbg43t6hae4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference